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Article

Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.

Molecular biology reports - 14 Feb 2024

Fayyaz Hajra, Zaman Atteaya, Shabbir Sheeba, Khan Zara Khalid, Haider Nighat, Saleem Ali Faisal, Ahamad Wasim, Ullah Imran

Abstract excerpt

BACKGROUND: Severe Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders. METHODOLOGY AND RESULTS: This current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular...

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Source

Identifiers

PMID: 38355773
DOI: 10.1007/s11033-024-09222-0

Genes

IL2RG
DCLRE1C
RAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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